Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients

Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10.


Introduction: Patients with anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis.

Materials and methods: Data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared.

Results: Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase levels ranged from 200 to 40,000 U/L. Electromyography showed a myopathic pattern in 5 patients, and muscle imaging showed involvement of posterior calf muscles in 10 patients. Mild cardiac involvement was observed in 2 patients. Sixteen patients remain free of weakness after a median follow-up period of 5 years.

Discussion: Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy and may remain isolated or precede muscle weakness by many years. Muscle Nerve 56: 1096-1100, 2017.

Keywords: Miyoshi myopathy type 3; anoctamin 5; exercise intolerance; hyperCKemia; limb-girdle muscular dystrophy; muscular dystrophy.

MeSH terms

  • Adult
  • Anoctamins / genetics*
  • Asymptomatic Diseases / epidemiology
  • Cohort Studies
  • Creatine Kinase / blood*
  • Exercise Tolerance / physiology*
  • Female
  • Follow-Up Studies
  • France / epidemiology
  • Humans
  • Male
  • Middle Aged
  • Muscle Weakness / blood
  • Muscle Weakness / epidemiology
  • Muscle Weakness / genetics
  • Muscular Diseases / blood
  • Muscular Diseases / epidemiology
  • Muscular Diseases / genetics
  • Mutation / genetics*
  • Myalgia / blood*
  • Myalgia / epidemiology
  • Myalgia / genetics*
  • Retrospective Studies


  • ANO5 protein, human
  • Anoctamins
  • Creatine Kinase